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Volumn 76, Issue 4, 2011, Pages 316-317

Niemann-Pick C disease: Not your average lysosomal storage disease

Author keywords

[No Author keywords available]

Indexed keywords

GAMMA SECRETASE; LOW DENSITY LIPOPROTEIN;

EID: 79251649453     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3182088310     Document Type: Editorial
Times cited : (3)

References (8)
  • 1
    • 0000721551 scopus 로고
    • A defect in cholesterol esterification in Niemann-Pick disease (type C) patients
    • Pentchev PG, Comly ME, Kruth HS, et al. A defect in cholesterol esterification in Niemann-Pick disease (type C) patients. Proc Natl Acad Sci USA 1985;82:8247-8251.
    • (1985) Proc Natl Acad Sci USA , vol.82 , pp. 8247-8251
    • Pentchev, P.G.1    Comly, M.E.2    Kruth, H.S.3
  • 2
    • 0023588096 scopus 로고
    • Group C Niemann-Pick disease: Faulty regulation of low-density lipoprotein uptake and cholesterol storage in cultured fibroblasts
    • Pentchev PG, Comly ME, Kruth HS, et al. Group C Niemann-Pick disease: faulty regulation of low-density lipoprotein uptake and cholesterol storage in cultured fibroblasts. FASEB J 1987;1:40-45.
    • (1987) FASEB J , vol.1 , pp. 40-45
    • Pentchev, P.G.1    Comly, M.E.2    Kruth, H.S.3
  • 3
    • 0034717894 scopus 로고    scopus 로고
    • Intracellular cholesterol trafficking: Role of the NPC1 protein
    • Blanchette-Mackie EJ. Intracellular cholesterol trafficking: role of the NPC1 protein. Biochim Biophys Acta 2000; 1486:171-183.
    • (2000) Biochim Biophys Acta , vol.1486 , pp. 171-183
    • Blanchette-Mackie, E.J.1
  • 4
    • 79251560973 scopus 로고    scopus 로고
    • ■y-Secretase-dependent amyloid-/3 is increased in Niemann-Pick C: A cross-sectional study
    • Mattsson N, Zetterberg H, Bianconi S, et al. ■y-Secretase-dependent amyloid-/3 is increased in Niemann-Pick C: a cross-sectional study. Neurology 2011;76:366-372.
    • (2011) Neurology , vol.76 , pp. 366-372
    • Mattsson, N.1    Zetterberg, H.2    Bianconi, S.3
  • 5
    • 77953240210 scopus 로고    scopus 로고
    • Increased expression of the lysosomal cholesterol transporter NPC1 in Alzheimer's disease
    • Kågedal K, Kim WS, Appelqvist H, et al. Increased expression of the lysosomal cholesterol transporter NPC1 in Alzheimer's disease. Biochim Biophys Acta 2010;1801: 831-838.
    • (2010) Biochim Biophys Acta , vol.1801 , pp. 831-838
    • Kågedal, K.1    Kim, W.S.2    Appelqvist, H.3
  • 6
    • 77955453909 scopus 로고    scopus 로고
    • Diagnosis-independent signature in cognitively normal elderly people
    • for the Alz-heimers Disease Neuroimaging Initiative
    • DeMyer G, Shapiro F, Trojanowski JQ, et al, for the Alz-heimers Disease Neuroimaging Initiative. Diagnosis-independent signature in cognitively normal elderly people. Arch Neurol 2010;67:949-956.
    • (2010) Arch Neurol , vol.67 , pp. 949-956
    • Demyer, G.1    Shapiro, F.2    Trojanowski, J.Q.3
  • 7
    • 0018176170 scopus 로고
    • Paired helical filaments in neurovisceral lipidosis (juvenile dystonic lipidosis)
    • Horoupian DS, Yang SS. Paired helical filaments in neurovisceral lipidosis (juvenile dystonic lipidosis). Ann Neurol 1978;4:404-411.
    • (1978) Ann Neurol , vol.4 , pp. 404-411
    • Horoupian, D.S.1    Yang, S.S.2
  • 8
    • 0028840239 scopus 로고
    • Paired helical filament tau (PHFtau) in Niemann-Pick type C disease is similar to PHFtau in Alzheimer's disease
    • Auer IA, Schmidt ML, Lee VM, et al. Paired helical filament tau (PHFtau) in Niemann-Pick type C disease is similar to PHFtau in Alzheimer's disease. Acta Neuro-pathol 1995;90:547-551.
    • (1995) Acta Neuro-pathol , vol.90 , pp. 547-551
    • Auer, I.A.1    Schmidt, M.L.2    Lee, V.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.